Impact of traumatic dental injuries and malocclusions on quality of life of young children

Abstract Background The presence of traumatic dental injuries and malocclusions can have a negative impact on quality of life of young children and their parents, affecting their oral health and well-being. The aim of this study was to assess the impact of traumatic dental injuries and anterior malocclusion traits on the Oral Health-Related Quality of Life (OHRQoL) of children between 2 and 5 years-old. Methods Parents of 260 children answered the six domains of the Early Childhood Oral Health Impact Scale (ECOHIS) on their perception of the OHRQoL (outcome). Two calibrated dentists assessed the types of traumatic dental injuries (Kappa = 0.9) and the presence of anterior malocclusion traits (Kappa = 1.0). OHRQoL was measured using the ECOHIS. Poisson regression was used to associate the type of traumatic dental injury and the presence of anterior malocclusion traits to the outcome. Results The presence of anterior malocclusion traits did not show a negative impact on the overall OHRQoL mean or in each domain. Only complicated traumatic dental injuries showed a negative impact on the symptoms (p = 0.005), psychological (p = 0.029), self image/social interaction (p = 0.004) and family function (p = 0.018) domains and on the overall OHRQoL mean score (p = 0.002). The presence of complicated traumatic dental injuries showed an increased negative impact on the children's quality of life (RR = 1.89; 95% CI = 1.36, 2.63; p < 0.001). Conclusions Complicated traumatic dental injuries have a negative impact on the OHRQoL of preschool children and their parents, but anterior malocclusion traits do not.

La influencia de la estética oriental en la autotraducción: análisis de la novela bicultural The Good Earth de la autora P.S. Buck

[EN]This dissertation analyses the Eastern cultural influences present in the aesthetic of Buck’s best seller The Good Earth. The objective is to study the characteristics of Buck’s aesthetic as a product of a creative process of self-translation between Mandarin and English. The methodology of analysis has focused on the characters of the novel, the strategies used to refer to them, the characters’ idiolect and their social interaction (facework). Finally, these cultural aspects have been compared with one of the Spanish translations available of the novel. The results obtained show a novel highly influenced by the Eastern tradition, where the idiolect of the characters show an influence from both East and West possible thanks to the mechanism of self-translation.

Genetica molecolare dell'autismo: studi di associazione ed analisi di geni candidati

Autism is a neurodevelpmental disorder characterized by impaired verbal communication, limited reciprocal social interaction, restricted interests and repetitive behaviours. Twin and family studies indicate a large genetic contribution to ASDs (Autism Spectrum Disorders). During my Ph.D. I have been involved in several projects in which I used different genetic approaches in order to identify susceptibility genes in autism on chromosomes 2, 7 and X: 1)High-density SNP association and CNV analysis of two Autism Susceptibility Loci. The International Molecular Genetic Study of Autism Consortium (IMGSAC) previously identified linkage loci on chromosomes 7 and 2, termed AUTS1 and AUTS5, respectively. In this study, we evaluated the patterns of linkage disequilibrium (LD) and the distribution of haplotype blocks, utilising data from the HapMap project, across the two strongest peaks of linkage on chromosome 2 and 7. More than 3000 SNPs have been selected in each locus in all known genes, as well as SNPs in non-genic highly conserved sequences. All markers have been genotyped to perform a high-density association analysis and to explore copy number variation within these regions. The study sample consisted of 127 and 126 multiplex families, showing linkage to the AUTS1 and AUTS5 regions, respectively, and 188 gender-matched controls. Association and CNV analysis implicated several new genes, including IMMP2L and DOCK4 on chromosome 7 and ZNF533 and NOSTRIN on the chromosome 2. Particularly, my contribution to this project focused on the characterization of the best candidate gene in each locus: On the AUTS5 locus I carried out a transcript study of ZNF533 in different human tissues to verify which isoforms and start exons were expressed. High transcript variability and a new exon, never described before, has been identified in this analysis. Furthermore, I selected 31 probands for the risk haplotype and performed a mutation screen of all known exons in order to identify novel coding variants associated to autism. On the AUTS1 locus a duplication was detected in one multiplex family that was transmitted from father to an affected son. This duplication interrupts two genes: IMMP2L and DOCK4 and warranted further analysis. Thus, I performed a screening of the cohort of IMGSAC collection (285 multiplex families), using a QMPSF assay (Quantitative Multiplex PCR of Short fluorescent Fragments) to analyse if CNVs in this genic region segregate with autism phenotype and compare their frequency with a sample of 475 UK controls. Evidence for a role of DOCK4 in autism susceptibility was supported by independent replication of association at rs2217262 and the finding of a deletion segregating in a sib-pair family. 2)Analysis of X chromosome inactivation. Skewed X chromosome inactivation (XCI) is observed in females carrying gene mutations involved in several X-linked syndromes. We aimed to estimate the role of X-linked genes in ASD susceptibility by ascertaining the XCI pattern in a sample of 543 informative mothers of children with ASD and in a sample of 164 affected girls. The study sample included families from different european consortia. I analysed the XCI inactivation pattern in a sample of italian mothers from singletons families with ASD and also a control groups (144 adult females and 40 young females). We observed no significant excess of skewed XCI in families with ASD. Interestingly, two mothers and one girl carrying known mutations in X-linked genes (NLGN3, ATRX, MECP2) showed highly skewed XCI, suggesting that ascertainment of XCI could reveal families with X-linked mutations. Linkage analysis was carried out in the subgroup of multiplex families with skewed XCI (≥80:20) and a modest increased allele sharing was obtained in the Xq27-Xq28 region, with a peak Z score of 1.75 close to rs719489. In this region FMR1 and MECP2 have been associated in some cases with austim and therefore represent candidates for the disorder. I performed a mutation screen of MECP2 in 33 unrelated probands from IMGSAC and italian families, showing XCI skewness. Recently, Xq28 duplications including MECP2, have been identified in families with MR, with asymptomatic carrier females showing extreme (>85%) skewing of XCI. For these reason I used the sample of probands from X-skewed families to perform CNV analysis by Real-time quantitative PCR. No duplications have been found in our sample. I have also confirmed all data using as alternative method the MLPA assay (Multiplex Ligation dependent Probe Amplification). 3)ASMT as functional candidate gene for autism. Recently, a possible involvement of the acetylserotonin O-methyltransferase (ASMT) gene in susceptibility to ASDs has been reported: mutation screening of the ASMT gene in 250 individuals from the PARIS collection revealed several rare variants with a likely functional role; Moreover, significant association was reported for two SNPs (rs4446909 and rs5989681) located in one of the two alternative promoters of the gene. To further investigate these findings, I carried out a replication study using a sample of 263 affected individuals from the IMGSAC collection and 390 control individuals. Several rare mutations were identified, including the splice site mutation IVS5+2T>C and the L326F substitution previously reported by Melke et al (2007), but the same rare variants have been found also in control individuals in our study. Interestingly, a new R319X stop mutation was found in a single autism proband of Italian origin and is absent from the entire control sample. Furthermore, no replication has been found in our case-control study typing the SNPs on the ASMT promoter B.

Designing and Programming Organizational Infrastructures for Agents situated in Artifact-based Environments

Actual trends in software development are pushing the need to face a multiplicity of diverse activities and interaction styles characterizing complex and distributed application domains, in such a way that the resulting dynamics exhibits some grade of order, i.e. in terms of evolution of the system and desired equilibrium. Autonomous agents and Multiagent Systems are argued in literature as one of the most immediate approaches for describing such a kind of challenges. Actually, agent research seems to converge towards the definition of renewed abstraction tools aimed at better capturing the new demands of open systems. Besides agents, which are assumed as autonomous entities purposing a series of design objectives, Multiagent Systems account new notions as first-class entities, aimed, above all, at modeling institutional/organizational entities, placed for normative regulation, interaction and teamwork management, as well as environmental entities, placed as resources to further support and regulate agent work. The starting point of this thesis is recognizing that both organizations and environments can be rooted in a unifying perspective. Whereas recent research in agent systems seems to account a set of diverse approaches to specifically face with at least one aspect within the above mentioned, this work aims at proposing a unifying approach where both agents and their organizations can be straightforwardly situated in properly designed working environments. In this line, this work pursues reconciliation of environments with sociality, social interaction with environment based interaction, environmental resources with organizational functionalities with the aim to smoothly integrate the various aspects of complex and situated organizations in a coherent programming approach. Rooted in Agents and Artifacts (A&A) meta-model, which has been recently introduced both in the context of agent oriented software engineering and programming, the thesis promotes the notion of Embodied Organizations, characterized by computational infrastructures attaining a seamless integration between agents, organizations and environmental entities.

Prematurità: Interazioni Precoci e Sintomatologia Materna

La prematurità rappresenta un fattore di rischio per la qualità delle interazioni precoci e la sintomatologia materna, soprattutto in caso di nascita VLBW (peso ≤ 1500 grammi) ed ELBW (≤1000 grammi). Scopo dello studio è valutare a 3 e 9 mesi di età corretta le modalità interattive delle diadi madre-bambino e lo stato affettivo materno in due campioni di prematuri, ELBW e VLBW, confrontandoli con un gruppo di bambini nati a termine (GC). Un campione di 119 diadi madre-bambino, di cui 71 nati prematuri (30 VLBW e 21 ELBW) e 68 a termine, sono stati valutati all'età di 3 e 9 mesi. Durante gli assessment, è avvenuta la videoregistrazione dell’interazione madre-bambino, codificata mediante le Global Rating Scales (a 3 mesi) ed il CARE Index Infant (a 9 mesi), e la valutazione della sintomatologia materna, attraverso Edinburgh Postnatal Depression Scale, Penn State Worry Questionnaire, Social Interaction and Anxiety Scale, Social Phobia Scale, Parenting Stress Index-Short Form, Questionari italiani del Temperamento. A 3 mesi, le madri di ELBW appaiono più demanding e meno sensibili rispetto a quelle di VLBW; più intrusive rispetto a quelle di GC. Tali madri, inoltre, sono significativamente meno sensibili di quelle del GC anche a 9 mesi. In entrambi gli assessment, tali madri presentano livelli significativamente maggiori di depressione, ansia generalizzata e stress, rispetto a quelle di entrambi gli altri gruppi. Non emergono differenze rispetto all'ansia sociale nè alla percezione del temperamento. Le analisi della correlazione hanno evidenziato specifiche relazioni tra la sintomatologia materna e i pattern interattivi nei tre gruppi. La nascita pretermine rappresenta un fattore di rischio solo per le madri di ELBW, che presentano difficoltà interattive ed elevata sintomatologia; quelle dei VLBW, infatti, tendono a presentare pattern interattivi affini a quelle del GC, mostrando adeguata sensibilità e bassi livelli di depressione, ansia e stress.

Plasticity in body and peripersonal space representations

A successful interaction with objects in the environment requires integrating information concerning object-location with the shape, dimension and position of body parts in space. The former information is coded in a multisensory representation of the space around the body, i.e. peripersonal space (PPS), whereas the latter is enabled by an online, constantly updated, action-orientated multisensory representation of the body (BR) that is critical for action. One of the critical features of these representations is that both PPS and BR are not fixed, but they dynamically change depending on different types of experience. In a series of experiment, I studied plastic properties of PPS and BR in humans. I have developed a series of methods to measure the boundaries of PPS representation (Chapter 4), to study its neural correlates (Chapter 3) and to assess BRs. These tasks have been used to study changes in PPS and BR following tool-use (Chapter 5), multisensory stimulation (Chapter 6), amputation and prosthesis implantation (Chapter 7) or social interaction (Chapter 8). I found that changes in the function (tool-use) and the structure (amputation and prosthesis implantation) of the physical body elongate or shrink both PPS and BR. Social context and social interaction also shape PPS representation. Such high degree of plasticity suggests that our sense of body in space is not given at once, but it is constantly constructed and adapted through experience.

Loss of exploratory vertical saccades after unilateral frontal eye field damage

Despite their relevance for locomotion and social interaction in everyday situations, little is known about the cortical control of vertical saccades in humans. Results from microstimulation studies indicate that both frontal eye fields (FEFs) contribute to these eye movements. Here, we present a patient with a damaged right FEF, who hardly made vertical saccades during visual exploration. This finding suggests that, for the cortical control of exploratory vertical saccades, integrity of both FEFs is indeed important.

Language attitudes and language shift among ethnic migrants in Khartoum

This paper investigates language attitudes among ethnic migrant groups in Khartoum, the capital city of Sudan. A questionnaire was used to collect data on language preference, language parents prefer their children to learn, and reasons for language preference. Results suggest that while positive attitude played a significant role in learning Arabic among some of the groups under investigation, it proved to be of no help in maintaining the groups’ ethnic languages. Arabic was reported as very important for education, religious activities, economic privileges and social interaction. Ethnic languages, on the other hand, were preferred for purely symbolic reasons (symbolizing groups’ ethnic identity).

Seniors in Society. Strategies to Retain Individual Autonomy

The research project on "Seniors in Society. Strategies to Retain Individual Autonomy" (2002 - 2004) is supported by the Grant Agency of the Czech Republic. It's importance is empha-sized by the relevance of social and economic aspects of demographic ageing of the popula-tion and that of fundamental changes associated with the transformation of Czech society. The objectives of the research are (1) to find out seniors' material and social resources sup-porting their relative autonomy in everyday life, (2) to record their personal expectations from state, community, or formal and informal support and aid institutions, respectively, and (3) to uncover their engagement in social interaction and individual experiencing of the integration into social groups. The data acquired become the base for (4) identifying the typologies corre-sponding to the levels of seniors' social integration (i.e. groups of relatives, friends, neighbours, special-interest and professional groups). By applying qualitative methods, we explore (5) strategies of everyday life and coping with life cycle events and crisis within par-ticular types. Special attention is paid to the family background of the seniors, including rela-tives in the vertical line. Specifically, we focus on (6) conditions under which family is capa-ble and willing to help or actually is helping it's oldest members, as well as on their interpre-tation within (7) identified types of the relatives supportive systems.

The TViews Table Role-Playing Game

The TViews Table Role-Playing Game (TTRPG) is a digital tabletop role-playing game that runs on the TViews table, bridging the separate worlds of traditional role-playing games with the growing area of massively multiplayer online role-playing games. The TViews table is an interactive tabletop media platform that can track the location of multiple tagged objects in real-time as they are moved around its surface, providing a simultaneous and coincident graphical display. In this paper we present the implementation of the first version of TTRPG, with a content set based on the traditional Dungeons & Dragons rule-set. We also discuss the results of a user study that used TTRPG to explore the possible social context of digital tabletop role-playing games.

The Design of Networked Exertion Games

Incorporating physical activity and exertion into pervasive gaming applications can provide health and social benefits. Prior research has resulted in several prototypes of pervasive games that encourage exertion as interaction form; however, no detailed critical account of the various approaches exists. We focus on networked exertion games and detail some of our work while identifying the remaining issues towards providing a coherent framework. We outline common lessons learned and use them as the basis for generalizations for the design of networked exertion games. We propose possible directions of further investigation, hoping to provide guidance for future work to facilitate greater awareness and exposure of exertion games and their benefits.

(Lifelong) learning in your pocket?

Der Beitrag fokussiert die Entwicklung, den Einsatz und die Nutzung von innovativen Technologien zur Unterstützung von Bildungsszenarien in Schule, Hochschule und Weiterbildung. Ausgehend von den verschiedenen Phasen des Corporate Learning, Social Learning, Mobile Learning und Intelligent Learning wird in einem ersten Abschnitt das Nutzungsverhalten von Technologien durch Kinder, Jugendliche und (junge) Erwachsene in Schule, Studium und Lehre betrachtet. Es folgt die Darstellung technologischer Entwicklungen auf Basis des Technology Life Cycle und die Konsequenzen von unterschiedlichen Entwicklungszuständen und Reifegraden von Technologien wie Content Learning Management, sozialen Netzwerken, mobilen Endgeräten, multidimensionalen und -modalen Räumen bis hin zu Anwendungen augmentierter Realität und des Internets der Dinge, Dienste und Daten für den Einsatz und die Nutzung in Bildungsszenarien. Nach der Darstellung von Anforderungen an digitale Technologien hinsichtlich Inhalte, Didaktik und Methodik wie etwa hinsichtlich der Erstellung von Inhalten, deren Wiederverwendung, Digitalisierung und Auffindbarkeit sowie Standards werden methodische Hinweise zur Nutzung digitaler Technologien zur Interaktion von Lernenden, von Lehrenden, sozialer Interaktion, kollaborativem Autorieren, Kommentierung, Evaluation und Begutachtung gegeben. Abschließend werden - differenziert für Schule und Hochschule - Erkenntnisse zu Rahmenbedingungen, Einflussgrößen, hemmenden und fördernden Faktoren sowie Herausförderungen bei der Einführung und nachhaltigen Implementation digitaler Technologien im schulischen Unterricht, in Lehre, Studium und Weiterbildung im Überblick zusammengefasst.

“Facebook Style”: The use of non-standard features in virtual speech conditioned by the medium Facebook

Facebook is a medium of social interaction producing its own style. I study how users from Malaga create this style through phonic features of the local variety and how they reflect on the use of these features. I then analyse the use of non-standard features by users from Malaga and compare them to an oral corpus. Results demonstrate that social factors work differently in real and virtual speech. Facebook communication is seen as a style serving to create social meaning and to express linguistic identity.

The Spanish variety of Malaga: From real to mental to virtual speech

Internet has affected our lives and society in manifold ways, and partly, in fundamental ways. Therefore, it is no surprise that one of the affected areas is language and communication itself. Over the last few years, online social networks have become a widespread and continuously expanding medium of communication. Being a new medium of social interaction, online social networks produce their own communication style, which in many cases differs considerably from real speech and is also perceived differently. The focus of analysis of my PhD thesis is how social network users from the city of Malaga create this virtual style by means of phonic features typical of the Andalusian variety of Spanish and how the users’ language attitude has an influence on the use of these phonic features. The data collection was fourfold: 1) a main corpus was compiled from 240 informants’ utterances on Facebook and Tuenti; 2) a corpus constituted of broad transcriptions of recordings with 120 people from Malaga served as a comparison; 3) a survey in which 240 participants rated the use of said phonetic variants on the following axes: “good–bad”, “correct–incorrect” and “beautiful–ugly” was carried out; 4) a survey with 240 participants who estimated with which frequency the analysed features are used in Malaga was conducted. For the analysis, which is quantitative and qualitative, ten variables were chosen. Results show that the studied variants are employed differently in virtual and real speech depending on how people perceive these variants. In addition, the use of the features is constrained by social factors. In general, people from Malaga have a more positive attitude towards non-­‐standard features if they are used in virtual speech than in real speech. Thus, virtual communication is seen as a style serving to create social meaning and to express linguistic identity. These stylistic practices reflect an amalgam of social presuppositions about usage conventions and individual strategies for handling a new medium. In sum, the virtual style is an initiative deliberately taken by the users, to create their, real and virtual, identities, and to define their language attitudes towards the features of their variety of speech.